The Ethical Implications of Genetic Testing

The field of genetic testing and genetic research is expanding extremely fast. Along with this, a lot of questions arise, ethical issues like genetic privacy, the possibility of genetic discrimination and eugenics. There is also the issue of how to convey this genetic information in a proper way. The main question is ‘Should the field of genetic testing grow bigger, or stay as it is?’

Background

Nowadays we live in a very technologically progressive society. Every day scientist come up with new discoveries about how things work in this world. It was back in the 1980’s when a lot of scientist came to understand that to enhance the understanding of basic biology, detailed knowledge of the structure of DNA, the double helix, was needed. This is when the mapping of our complete DNA started, which has become known as the Human Genome Project (HGP). This is the mapping of all our +/- 100,000 genes and the decoding of the complete sequence of our 3 billion base pairs. In 1994 this HGP was able to create a complete map of the human genome.

This did not mean, however, that the Human Genome Project was completed, a lot of research still needs to be done. Since the start of the Human Genome Project a very large number of common and rare genetic diseases have been identified and connected to specific genes. The completion of the Human Genome Project has a lot to offer for this field. For example special treats and therapies can arise for diseases like cancers or genetic disorders if its genetic structure gets known. With the HGP it has become way easier to test and tell if an individual (or its family) suffers from a genetic disorder. In the end the HGP should be able to accurately identify all genetically related diseases and disorders.

Already before the Human Genome Project genetic testing existed, but it has increased very fast because of all the knowledge coming from the HGP. Genetic testing is described as ‘’the analyses of human DNA, RNA, chromosomes, proteins and certain metabolites in order to detect heritable disease related genotypes, mutations, phenotypes, or karyotypes for clinical purposes’’ . Back in the days genetic testing was based upon observation of patients, added with a lab research of blood or tissue and sometimes even an extensive family history research. Nowadays the genetic testing is way more advanced. The presence and probability of genetic diseases can now easily be detected. Unfortunately, it is way too simple to state that the mutation of a single gene is the cause of a genetic disease or disorder. Most of the genetic diseases are multifactorial which means that the disease is caused because different genes and environmental factors interact with each other. Some examples of those multifactorial disorders are diabetes, schizophrenia and asthma. In such cases genetic testing is only of value if all the genes and factors that interact with each other could be identified. And even if these diseased could be detected, more research would be needed to find a way to treat them.

Genetic Testing Methods

There are several reason for genetic testing. The first and the biggest reason is to identify if patients suffer from genetic diseases or disorders using medical tests to allow doctors to treat these patients correctly. The testing can also show the severity of the disease. Many genetic diseases (like some cancers) may be identified by these tests which can then provide information and help for deciding how rigorously to treat the patient.

Another reason of genetic testing is pre-symptomatic testing, meaning testing before the symptoms of a specific disease can be determined. With this kind of testing individuals who are at risk for future illness can be identified. These DNA based diagnostic tools (genetic tests) can for example be used on children with whom any genetic disease is to be expected since most inherited diseases appear in childhood. The idea of pre-symptomatic testing is to prepare people mentally, financially and emotionally for the possible future illness. Preventing from getting this disease is in most cases very difficult to impossible.

A third reason for genetic testing can be for couples who would like to have a baby. In this kind of testing the couple gets tested to help them decide whether or not to take a baby based on the result if their baby has a high chance of developing a genetic disease. This is very helpful for people who already know they have a heritable genetic disease themselves. Testing can also be done at various stages on the potential child if the couple is already sure they are going to take one. They can, for example, use in-vitro fertilization (pre implementation testing) to see if their embryo has any genetic diseases. Only embryos without diseases are implanted into the uterus. Another frequently used testing method is penatal testing, which prepares parents emotionally and financially for the possibility of an baby with an disorder. Some parents may choose to abort their child when they find out it is going to have a disease. This is often seen as one of the downsides of this way of testing. More and more people start to prefer pre-implantation diagnosis because it avoids abortions, and can therefore also avoids maternal risk and emotional trauma of an abortion for the mother. A pro of pre-implantation testing is that it can check for multiple diseases. A con is that it can gives people of this generation power and control over the future generations because they can decide who lives and who does not.

Issues Regarding Genetic Testing

For a lot of people many issues and question arise with all this genetic testing. Some of them even think that because of the high progressing rate ‘’we are ill-prepared as a society to deal with many of the complex problems that will arise from advances in genetic technology‘’. Personal genetic privacy is a big issue for some people. Due to the big amounts of information generated by these tests people think it will become difficult to guarantee the privacy and confidentiality of patient’s personal medical records. Others fear for an significant increase in costs if privacy and confidential information will be guaranteed because care workers have to be trained on how to work with this privacy sensitive information they are given. Because of this testing it will be possible for a doctor to take a routine blood sample and with that find out everything there is to know about this persons genome, containing information that not just everybody should know because it can, for example, lead to discrimination, which will be explained later. New born testing raises the issue of privacy rights, because this genetic information will be stored for future use without the donor’s consent. Even though those sample banks or biobanks have reasonable purpose the owners of the samples and their relatives have completely lost power and control over their genetic information. This concerns people because they do not know who gets their hands on it and what they will do with it. Stakeholders having interest in this data include the government, health care workers, insurers, employers and family members. Governments and health care workers may need it to come up with stats of the presence of a certain disease in a country or sub-groups. They can also use it to predict the need of certain facilities and resources for treatment. Family members may be concerned that a positive test on a genetic disease may affect them as well.

Another issue of genetic testing is personal privacy in population testing. 'Once specific genes have been isolated for the more common conditions, it will be possible to perform population screening for these abnormalities'. A lot of people fear that they will marked as having an abnormality because they are part of a particular population in which a lot of people has this abnormality. This raises the question if, and to what extend, genetic screening (testing whole populations) is worthwhile.

Other issues that are raised is that genetic information can “fall into the wrong hands”. People fear for example that insurance companies or future employers can use it against you, they can use it to determine if a person is a “ëgood riskí” (high risk) or not. They fear that insurers and employers use this information which will lead to genetic discrimination. In the future insurers may use applicants, so they can refuse insurance to individuals that test positive for certain things, or they get an higher charge. Cases where insurance was denied because of an genetic disease already happened, because the insurer calls it an “pre-existing condition”. Elliot argues, however, that almost all genetic disorders could be considered an “pre-existing condition”, so if coverage can simply get refused based on our genetic code insurance will soon cover little more than broken bones and other incidents like that. Insurance companies, on the other hand, argue that high risk clients cause an increase in general premiums which can drive away the low risk clients. Insurers state that consumers are protected from unfair discrimination because of the highly competitive market. Despite this, people have the feeling genetic information will be held against them. This fear can result in people avoiding these medical tests, to make sure their insurance premiums will not go up.

Some states have taken actions against this genetic discrimination by insurance companies. They use anti discrimination laws to protect the individuals from being denied coverage because of the outcome of their genetic tests. Some states even prohibit insurers from requesting genetic test results. There are 'two factors that limit the protection against discrimination afforded by current state laws. First, the federal Employee Retirement Income Security Act exempts self-funded plans from state insurance laws. Second, nearly all of the state laws focus narrowly on genetic tests, rather than more broadly on genetic information generated by family history, physical examination or medical record'. So even with these anti-discrimination laws people are not 100% free from the fear of discrimination based on their genetic make-up.

As mentioned before employers also have interest in the genetic make-up from individuals. People hesitate to share their information because employers may refuse to hire people with genetic predispositions to disease to make sure they avoid the costs of treatment in the future. Drlica says to understand this discrimination because companies can save large sums of money by avoiding workers with costly health problems. Employers argue they need to know their employees genetic information because of:

1. possible future absence,
2. conditions that put employees at risk in the work place
3. if emploees are sensitivity to the environment of the workplace (chemicals allergy etc).

The discrimination fear is not only generated by employers and insurers, but also by the society as a whole. This becomes very clear by racism and women equality issues and problems like that. Daniel kelves asks, 'Will the ability to analyze the genetic structure of individuals be used to try to define improved individuals and thus fan the flames of racism?'

Some people fear that this genetic testing creates a class of genetically vulnerables whom are easily facing discrimination, trauma and stigmatization. Genetic testing can be positive in cases where the disease can be prevented like PKU were retardation can be prevented in newborns. Diseases where prevention is not possible one might be unnecessarily labeled as diseased. A factor that has to be taken into account is that genes are not the only factor creating a disease, so people that are labeled with genetic make-up for a specific disease do not necessarily have to develop that disease because other factors do not accompany it. One has to take that into account when dealing with genetic testing to avoid people getting mistakenly classified.

A third issue around genetic testing is that of eugenics. Many people see this as an opportunity to weed out the undesirables in society. The Congress Office of Technology Assessment sees that 'new technologies for identifying and altering genes make it possible for eugenic goals to be achieved through technology as opposed to social control'. Eugenics arose from Social Darwinism, the idea that because of the evolution (Darwins evolution theory) only the fit species will survive, while the least fit will die, which is how eventually the quality of species gets improved.

In this technology advanced age, eugenics can easily use the prenatal testing. With DNA tests and screening programs afflicted fetuses can be identified and with abortion they can reduce the incidence of genetic disease. This brings up the ethical question: ‘’when does life begin?’’. This prenatal testing gives parents the power to decide upon the genetic make-up of future generations. Screening and abortion of diseased fetuses, however, can not eliminate the the gene causing a disease because carriers can pass this gene without ever developing the disease themselves. So screening an abortions has to continue for eternity if we want to eliminate some diseases from this world.

The fourth issue surrounding genetic testing is that patients often misunderstand the test results because they find the information difficult to understand, causing them to be unnecessarily frightened. Thomas Lee therefore states that 'screening programs as well as individual genetic tests require careful, clear explanations of the results'. For that reason more and more genetic tests use genetic counselors to help patients to better understand the results and to give them someone to turn to when it gets overwhelming. When genetic counselors have to deal with issues like these some other difficulties arise. Who do they have to report to? Only the patient? The patients family? Their husband/wife? All of these parties have interests in the test results because it affects them as well. Another difficulty those counselors have to deal with is whether or not it is beneficial if a patient knows he or she is a carrier of a gene that can cause a disease. For some diseases (like Huntington) there is no treatment so the decision becomes difficult. On one hand it might be good to know when you want to have a child, on the other hand it might be difficult to handle if you know you get an untreatable terminal disease. Is a genetic counselor required to tell the patients everything that came from the test? And does he have responsibility to report to the family? This all comes down to the issue of personal privacy. To decide what to do with the test results is a dilemma for many people.

The fifth and last issue gets understood when you look at it from a christian point of view. The canadian physican Perry Phillips sees genetic testing, especially prenatal testing, as ‘the beginning of the end of genetic disease’ because 'today eliminating disadvantages begins in the womb or even earlier in the egg or sperm'. Christians can have issues with this because a form of eugenics takes place, which is selecting against certain people or disorders. In this selection process abortions are done, which is also against christianity. With prenatal testing there is a hidden message that says that your are going to cost the society money if you do not abort your child with a genetic disease. This reduces somebody’s freedom to not abort when the test is positive. Christians see people as important because they are gods creation, not on the basis if they cost the society money. Last issue is that parents become responsible for the genetic make-up of their child, when in christianity god is the creator and has therefore the responsibility.

Steps Toward Dealing With the Issues

To make steps towards dealing with these issues a well functioning system needs to be implemented. About 5 percent of the budget of the Human Genome project is set aside for exploring and education on ethical, social and legal issues (Annas, 1993). The committee doing this, ELSI (Ethical Legal and Social Issues committee) has 4 main missions:

1. To define the implications expected of the Human Genome Project for individuals and society.
2. To examine legal, social and ethical secondary results of the sequencing and mapping of the human genome.
3. To stimulate public discussion about the identified issues surrounding genetic testing.
4. To make policy to make sure that the results from the HGP is used for the benefit of society and individuals.

Some people, however, say that 'although the Working Group on the Ethical, Legal and Social Implications of the Human Genome Project can grapple with complex issues in meetings, it has no enforcement powers, no means of establishing policy' (Holloway, 1995). So despite that a committee (ELSI) is working on almost all the issues (ethical, legal and social) the fear of people is not completely eliminated.

Conclusion

Genetic testing is growing really fast in this field of genetics. Because it becomes bigger many legal, ethical and social issues arise.Testing can be used to diagnose possible future deseases, find unknown diseases or to test if you should make a baby with your partner. With this, the issue of personal privacy comes along. With whom should you share your data? If sharing is required you make yourself vulnerable for discrimination by future employers, insurers and the whole society. With the increasing of genetic testing the issue of eugenics, and therefore the issues for christians, increase as well. Should individuals have the power to select against certain specific people or disorders. The ELSI committee is addressing all these issues. I think in this case technology went a bit to fast for the society. The issues mentioned above should be thought about carefully before genetic testing is growing bigger again. Like Meilaender said; ‘we should use this technology to turn against disease but not against people who have the disease’.

Bibliography

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